Genomic First Testing in Chronic Kidney Disease

Launched by DERVLA CONNAUGHTON · Jan 21, 2025

Keywords

ClinConnect Summary

This clinical trial is studying how genetic testing can help people with chronic kidney disease (CKD) who may have a genetic cause for their condition. Researchers want to find out if using advanced genetic testing, known as genome-wide sequencing, is better than standard genetic testing for understanding and managing CKD. Participants will fill out questionnaires about their quality of life before and after the testing and can also choose to have a one-on-one interview at the end of the study. Family members may provide DNA samples to help identify any genetic changes that could affect the participant.

To be eligible for the study, patients must have a diagnosis of CKD and meet certain guidelines that suggest they might have a genetic kidney disease. They need to be able to give consent to participate. Family members can also join if the main patient is enrolled. Healthcare providers who refer patients to the study can also take part. Overall, this trial aims to provide valuable insights into how genetic testing can impact patient care and health outcomes for those with CKD.

Gender

ALL

Eligibility criteria

• Patients:
• Inclusion Criteria:
• • 1. A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND
• • 2. Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND
• • 3. Index participant or substitute decision maker (SDM) can provide informed consent to participate.
• Exclusion Criteria:
• • 1. Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
• • 2. Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD.
• Family Members:
• Inclusion Criteria:
• • 1. Family/caregiver or SDM can provide informed consent to participate AND
• • 2. Related patient participant must be enrolled in the study.
• Exclusion Criteria:
• • 1. Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
• • 2. Related patient participant is not enrolled in the study.
• Healthcare Provider:
• • Inclusion Criteria 1. Provided a referral for at least one study participant.
• Exclusion Criteria:
• • 1. Is not a referring healthcare provider.
• Qualitative Sub-Study:
• Inclusion Criteria:
• • 1. Patient participant who is enrolled in the main study.
• • 2. 18 years or older.
• • 3. The guardian for a minor
• Exclusion Criteria:
• • 1. \<18 years of age unless the guardian can conduct the interview
• • 2. Patient participant who is not enrolled in the main study.